Incidental Mutation 'R3430:Vmn2r85'
ID |
268079 |
Institutional Source |
Beutler Lab
|
Gene Symbol |
Vmn2r85
|
Ensembl Gene |
ENSMUSG00000092048 |
Gene Name |
vomeronasal 2, receptor 85 |
Synonyms |
EG623734 |
MMRRC Submission |
040648-MU
|
Accession Numbers |
|
Essential gene? |
Probably non essential
(E-score: 0.086)
|
Stock # |
R3430 (G1)
|
Quality Score |
225 |
Status
|
Validated
|
Chromosome |
10 |
Chromosomal Location |
130253658-130266615 bp(-) (GRCm39) |
Type of Mutation |
missense |
DNA Base Change (assembly) |
T to A
at 130254758 bp (GRCm39)
|
Zygosity |
Heterozygous |
Amino Acid Change |
Histidine to Leucine
at position 642
(H642L)
|
Ref Sequence |
ENSEMBL: ENSMUSP00000128792
(fasta)
|
Gene Model |
predicted gene model for transcript(s):
[ENSMUST00000171811]
|
AlphaFold |
G3UW56 |
Predicted Effect |
probably damaging
Transcript: ENSMUST00000171811
AA Change: H642L
PolyPhen 2
Score 0.968 (Sensitivity: 0.77; Specificity: 0.95)
|
SMART Domains |
Protein: ENSMUSP00000128792 Gene: ENSMUSG00000092048 AA Change: H642L
Domain | Start | End | E-Value | Type |
signal peptide
|
1 |
24 |
N/A |
INTRINSIC |
Pfam:ANF_receptor
|
77 |
425 |
9e-26 |
PFAM |
Pfam:NCD3G
|
508 |
562 |
1.1e-18 |
PFAM |
Pfam:7tm_3
|
595 |
831 |
3.7e-54 |
PFAM |
|
Meta Mutation Damage Score |
0.6467 |
Coding Region Coverage |
- 1x: 99.3%
- 3x: 98.6%
- 10x: 97.4%
- 20x: 95.5%
|
Validation Efficiency |
100% (67/67) |
Allele List at MGI |
|
Other mutations in this stock |
Total: 61 list
Gene | Ref | Var | Chr/Loc | Mutation | Predicted Effect | Zygosity |
Afap1l2 |
C |
A |
19: 56,904,238 (GRCm39) |
R683L |
probably damaging |
Het |
Ahnak |
A |
G |
19: 8,984,322 (GRCm39) |
I1869V |
probably benign |
Het |
Aoc1 |
A |
T |
6: 48,883,010 (GRCm39) |
E295D |
probably benign |
Het |
Arhgef19 |
T |
C |
4: 140,984,111 (GRCm39) |
L777P |
probably benign |
Het |
Atf7ip |
A |
G |
6: 136,552,322 (GRCm39) |
|
probably benign |
Het |
Bhmt |
T |
C |
13: 93,763,855 (GRCm39) |
E62G |
probably damaging |
Het |
Bpifa6 |
A |
G |
2: 153,831,171 (GRCm39) |
I246V |
probably benign |
Het |
Btbd10 |
T |
A |
7: 112,951,016 (GRCm39) |
R25* |
probably null |
Het |
Ccdc88a |
T |
A |
11: 29,398,033 (GRCm39) |
D255E |
probably damaging |
Het |
Chd7 |
T |
C |
4: 8,844,517 (GRCm39) |
V1542A |
probably damaging |
Het |
Cimip1 |
T |
C |
2: 173,370,066 (GRCm39) |
Y114H |
possibly damaging |
Het |
Col12a1 |
T |
A |
9: 79,587,593 (GRCm39) |
T1183S |
probably benign |
Het |
Col20a1 |
T |
A |
2: 180,655,078 (GRCm39) |
L1145* |
probably null |
Het |
Dchs1 |
A |
G |
7: 105,405,711 (GRCm39) |
V2391A |
possibly damaging |
Het |
Dgat2 |
A |
G |
7: 98,806,300 (GRCm39) |
V299A |
probably benign |
Het |
Dmxl2 |
T |
A |
9: 54,384,745 (GRCm39) |
N94I |
possibly damaging |
Het |
Dnah6 |
G |
A |
6: 73,098,797 (GRCm39) |
S2034L |
possibly damaging |
Het |
Fabp3 |
C |
T |
4: 130,206,180 (GRCm39) |
T57I |
probably benign |
Het |
Filip1 |
A |
T |
9: 79,760,952 (GRCm39) |
M194K |
probably damaging |
Het |
Fut1 |
T |
C |
7: 45,268,798 (GRCm39) |
F196L |
probably damaging |
Het |
Gm10323 |
A |
C |
13: 67,002,888 (GRCm39) |
W17G |
probably damaging |
Het |
Grin3a |
C |
A |
4: 49,792,534 (GRCm39) |
V400L |
probably benign |
Het |
Htr3a |
T |
C |
9: 48,818,688 (GRCm39) |
N82S |
probably benign |
Het |
Il23r |
A |
C |
6: 67,429,458 (GRCm39) |
S295A |
probably benign |
Het |
Klk14 |
G |
A |
7: 43,341,501 (GRCm39) |
C51Y |
probably damaging |
Het |
Lama5 |
T |
C |
2: 179,838,110 (GRCm39) |
K869E |
probably benign |
Het |
Lce1d |
A |
T |
3: 92,593,037 (GRCm39) |
|
probably benign |
Het |
Lkaaear1 |
T |
C |
2: 181,339,324 (GRCm39) |
D42G |
probably benign |
Het |
Mapk8ip2 |
A |
G |
15: 89,341,485 (GRCm39) |
E232G |
possibly damaging |
Het |
Marf1 |
A |
G |
16: 13,958,041 (GRCm39) |
|
probably benign |
Het |
Mpeg1 |
A |
T |
19: 12,440,492 (GRCm39) |
H650L |
probably benign |
Het |
Nfib |
T |
C |
4: 82,416,532 (GRCm39) |
I168V |
possibly damaging |
Het |
Or1e29 |
A |
T |
11: 73,667,365 (GRCm39) |
S263T |
probably damaging |
Het |
Or2b7 |
A |
T |
13: 21,739,975 (GRCm39) |
C72* |
probably null |
Het |
Or4c29 |
C |
T |
2: 88,739,810 (GRCm39) |
R309Q |
probably benign |
Het |
Or4e5 |
A |
G |
14: 52,727,882 (GRCm39) |
F180L |
possibly damaging |
Het |
Or8b3b |
A |
T |
9: 38,584,435 (GRCm39) |
F102I |
probably damaging |
Het |
Otx2 |
T |
A |
14: 48,896,254 (GRCm39) |
K260M |
probably damaging |
Het |
P2ry12 |
C |
T |
3: 59,125,448 (GRCm39) |
D76N |
probably damaging |
Het |
Parp3 |
A |
T |
9: 106,351,922 (GRCm39) |
I150K |
probably damaging |
Het |
Prex2 |
T |
G |
1: 11,220,078 (GRCm39) |
I683S |
possibly damaging |
Het |
Prss34 |
A |
T |
17: 25,518,078 (GRCm39) |
K86I |
probably benign |
Het |
Ptpn20 |
T |
A |
14: 33,336,485 (GRCm39) |
V108D |
possibly damaging |
Het |
Rlf |
A |
G |
4: 121,007,729 (GRCm39) |
L417P |
probably benign |
Het |
Rsad2 |
T |
C |
12: 26,506,418 (GRCm39) |
M1V |
probably null |
Het |
S1pr5 |
A |
G |
9: 21,156,378 (GRCm39) |
V16A |
probably benign |
Het |
Scn7a |
AT |
ATT |
2: 66,531,239 (GRCm39) |
|
probably null |
Het |
Serpinb3b |
A |
T |
1: 107,082,425 (GRCm39) |
S280T |
probably benign |
Het |
Sh3d21 |
A |
G |
4: 126,056,625 (GRCm39) |
S66P |
probably benign |
Het |
Sh3yl1 |
T |
C |
12: 31,009,841 (GRCm39) |
S253P |
probably benign |
Het |
Smarca2 |
A |
G |
19: 26,668,749 (GRCm39) |
E916G |
probably damaging |
Het |
Sptbn1 |
A |
G |
11: 30,169,686 (GRCm39) |
I14T |
possibly damaging |
Het |
Supt16 |
A |
T |
14: 52,412,816 (GRCm39) |
M559K |
probably benign |
Het |
Tas1r2 |
A |
G |
4: 139,396,886 (GRCm39) |
T742A |
probably damaging |
Het |
Tbc1d5 |
T |
C |
17: 51,107,156 (GRCm39) |
K467E |
probably damaging |
Het |
Tet3 |
A |
G |
6: 83,380,401 (GRCm39) |
V589A |
probably damaging |
Het |
Tmem131 |
A |
G |
1: 36,847,902 (GRCm39) |
|
probably benign |
Het |
Tmtc3 |
A |
G |
10: 100,283,437 (GRCm39) |
F706S |
probably benign |
Het |
Tsku |
T |
C |
7: 98,001,746 (GRCm39) |
N195S |
probably damaging |
Het |
Vmn2r129 |
G |
T |
4: 156,686,692 (GRCm39) |
|
noncoding transcript |
Het |
Zfc3h1 |
A |
G |
10: 115,246,428 (GRCm39) |
|
probably benign |
Het |
|
Other mutations in Vmn2r85 |
Allele | Source | Chr | Coord | Type | Predicted Effect | PPH Score |
IGL01160:Vmn2r85
|
APN |
10 |
130,254,690 (GRCm39) |
missense |
probably benign |
0.22 |
IGL01298:Vmn2r85
|
APN |
10 |
130,254,690 (GRCm39) |
missense |
probably benign |
0.22 |
IGL01361:Vmn2r85
|
APN |
10 |
130,254,690 (GRCm39) |
missense |
probably benign |
0.22 |
IGL02185:Vmn2r85
|
APN |
10 |
130,254,561 (GRCm39) |
missense |
probably benign |
0.13 |
IGL02505:Vmn2r85
|
APN |
10 |
130,261,449 (GRCm39) |
missense |
probably damaging |
1.00 |
IGL02607:Vmn2r85
|
APN |
10 |
130,262,290 (GRCm39) |
missense |
possibly damaging |
0.89 |
IGL02755:Vmn2r85
|
APN |
10 |
130,261,381 (GRCm39) |
missense |
probably damaging |
0.98 |
IGL03188:Vmn2r85
|
APN |
10 |
130,254,612 (GRCm39) |
missense |
probably benign |
0.16 |
IGL03366:Vmn2r85
|
APN |
10 |
130,262,328 (GRCm39) |
missense |
probably benign |
0.00 |
IGL03397:Vmn2r85
|
APN |
10 |
130,261,263 (GRCm39) |
missense |
probably damaging |
1.00 |
PIT4445001:Vmn2r85
|
UTSW |
10 |
130,261,572 (GRCm39) |
missense |
probably benign |
0.00 |
R0066:Vmn2r85
|
UTSW |
10 |
130,261,770 (GRCm39) |
missense |
probably damaging |
1.00 |
R0128:Vmn2r85
|
UTSW |
10 |
130,255,054 (GRCm39) |
splice site |
probably benign |
|
R0130:Vmn2r85
|
UTSW |
10 |
130,255,054 (GRCm39) |
splice site |
probably benign |
|
R0503:Vmn2r85
|
UTSW |
10 |
130,258,609 (GRCm39) |
missense |
probably damaging |
1.00 |
R0827:Vmn2r85
|
UTSW |
10 |
130,265,387 (GRCm39) |
missense |
possibly damaging |
0.89 |
R1432:Vmn2r85
|
UTSW |
10 |
130,261,155 (GRCm39) |
missense |
possibly damaging |
0.74 |
R1521:Vmn2r85
|
UTSW |
10 |
130,261,788 (GRCm39) |
missense |
probably damaging |
0.99 |
R2029:Vmn2r85
|
UTSW |
10 |
130,261,443 (GRCm39) |
nonsense |
probably null |
|
R2034:Vmn2r85
|
UTSW |
10 |
130,262,242 (GRCm39) |
splice site |
probably benign |
|
R2852:Vmn2r85
|
UTSW |
10 |
130,255,035 (GRCm39) |
missense |
probably benign |
0.03 |
R2853:Vmn2r85
|
UTSW |
10 |
130,255,035 (GRCm39) |
missense |
probably benign |
0.03 |
R3084:Vmn2r85
|
UTSW |
10 |
130,261,081 (GRCm39) |
missense |
probably benign |
0.00 |
R3085:Vmn2r85
|
UTSW |
10 |
130,261,081 (GRCm39) |
missense |
probably benign |
0.00 |
R3694:Vmn2r85
|
UTSW |
10 |
130,254,171 (GRCm39) |
missense |
probably damaging |
0.99 |
R3932:Vmn2r85
|
UTSW |
10 |
130,254,336 (GRCm39) |
missense |
probably damaging |
1.00 |
R4207:Vmn2r85
|
UTSW |
10 |
130,254,574 (GRCm39) |
missense |
probably damaging |
1.00 |
R4628:Vmn2r85
|
UTSW |
10 |
130,261,235 (GRCm39) |
missense |
probably benign |
0.00 |
R4814:Vmn2r85
|
UTSW |
10 |
130,254,567 (GRCm39) |
missense |
probably benign |
0.12 |
R4948:Vmn2r85
|
UTSW |
10 |
130,254,990 (GRCm39) |
missense |
probably damaging |
1.00 |
R4951:Vmn2r85
|
UTSW |
10 |
130,261,113 (GRCm39) |
missense |
probably damaging |
1.00 |
R4959:Vmn2r85
|
UTSW |
10 |
130,257,302 (GRCm39) |
missense |
probably damaging |
1.00 |
R5336:Vmn2r85
|
UTSW |
10 |
130,258,574 (GRCm39) |
missense |
possibly damaging |
0.63 |
R5643:Vmn2r85
|
UTSW |
10 |
130,262,343 (GRCm39) |
missense |
probably damaging |
1.00 |
R6061:Vmn2r85
|
UTSW |
10 |
130,261,531 (GRCm39) |
missense |
probably benign |
0.09 |
R6115:Vmn2r85
|
UTSW |
10 |
130,258,672 (GRCm39) |
missense |
probably damaging |
1.00 |
R6190:Vmn2r85
|
UTSW |
10 |
130,261,330 (GRCm39) |
missense |
possibly damaging |
0.88 |
R6518:Vmn2r85
|
UTSW |
10 |
130,265,281 (GRCm39) |
missense |
probably benign |
0.00 |
R6533:Vmn2r85
|
UTSW |
10 |
130,262,529 (GRCm39) |
missense |
probably benign |
0.00 |
R6610:Vmn2r85
|
UTSW |
10 |
130,261,838 (GRCm39) |
missense |
probably damaging |
0.97 |
R6809:Vmn2r85
|
UTSW |
10 |
130,261,795 (GRCm39) |
missense |
probably benign |
|
R6962:Vmn2r85
|
UTSW |
10 |
130,261,452 (GRCm39) |
missense |
probably damaging |
0.99 |
R7075:Vmn2r85
|
UTSW |
10 |
130,258,557 (GRCm39) |
missense |
probably benign |
0.06 |
R7104:Vmn2r85
|
UTSW |
10 |
130,262,376 (GRCm39) |
missense |
probably benign |
|
R7424:Vmn2r85
|
UTSW |
10 |
130,254,849 (GRCm39) |
missense |
probably damaging |
1.00 |
R7516:Vmn2r85
|
UTSW |
10 |
130,254,852 (GRCm39) |
missense |
probably damaging |
1.00 |
R7537:Vmn2r85
|
UTSW |
10 |
130,258,735 (GRCm39) |
missense |
probably benign |
0.01 |
R7768:Vmn2r85
|
UTSW |
10 |
130,254,562 (GRCm39) |
missense |
probably damaging |
1.00 |
R7810:Vmn2r85
|
UTSW |
10 |
130,261,081 (GRCm39) |
missense |
probably benign |
0.00 |
R8078:Vmn2r85
|
UTSW |
10 |
130,265,364 (GRCm39) |
nonsense |
probably null |
|
R8115:Vmn2r85
|
UTSW |
10 |
130,261,820 (GRCm39) |
missense |
probably benign |
0.06 |
R8262:Vmn2r85
|
UTSW |
10 |
130,254,738 (GRCm39) |
missense |
probably damaging |
0.98 |
R8395:Vmn2r85
|
UTSW |
10 |
130,261,797 (GRCm39) |
missense |
probably damaging |
0.99 |
R8409:Vmn2r85
|
UTSW |
10 |
130,261,257 (GRCm39) |
missense |
probably benign |
0.16 |
R8547:Vmn2r85
|
UTSW |
10 |
130,261,311 (GRCm39) |
missense |
probably damaging |
1.00 |
R8875:Vmn2r85
|
UTSW |
10 |
130,254,171 (GRCm39) |
missense |
probably damaging |
0.99 |
R9035:Vmn2r85
|
UTSW |
10 |
130,261,479 (GRCm39) |
missense |
probably benign |
|
R9040:Vmn2r85
|
UTSW |
10 |
130,254,311 (GRCm39) |
missense |
probably damaging |
1.00 |
R9115:Vmn2r85
|
UTSW |
10 |
130,254,153 (GRCm39) |
missense |
probably benign |
0.00 |
R9182:Vmn2r85
|
UTSW |
10 |
130,265,350 (GRCm39) |
missense |
probably benign |
0.00 |
R9245:Vmn2r85
|
UTSW |
10 |
130,261,534 (GRCm39) |
missense |
probably damaging |
1.00 |
R9245:Vmn2r85
|
UTSW |
10 |
130,255,033 (GRCm39) |
missense |
possibly damaging |
0.92 |
R9405:Vmn2r85
|
UTSW |
10 |
130,261,215 (GRCm39) |
missense |
probably damaging |
0.99 |
R9502:Vmn2r85
|
UTSW |
10 |
130,261,387 (GRCm39) |
missense |
probably damaging |
0.99 |
R9520:Vmn2r85
|
UTSW |
10 |
130,254,993 (GRCm39) |
missense |
probably benign |
|
R9653:Vmn2r85
|
UTSW |
10 |
130,261,694 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1176:Vmn2r85
|
UTSW |
10 |
130,261,713 (GRCm39) |
missense |
probably damaging |
0.99 |
Z1177:Vmn2r85
|
UTSW |
10 |
130,254,776 (GRCm39) |
missense |
probably damaging |
1.00 |
|
Predicted Primers |
PCR Primer
(F):5'- TGGGAATGACCAACTTAGGTGC -3'
(R):5'- TGCCTCCAAAGAGCTGTGTC -3'
Sequencing Primer
(F):5'- ATGACCAACTTAGGTGCCCCTG -3'
(R):5'- CCAAAGAGCTGTGTCATTTCTGGC -3'
|
Posted On |
2015-02-18 |